ClinVar Miner

Variants with conflicting interpretations "pathogenic" from GeneDx and "uncertain significance" from any submitter

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 723
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
UGT1A1*6 rs4148323 0.00891
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp) rs139084702 0.00200
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454 0.00089
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) rs200484521 0.00066
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter) rs146466242 0.00045
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter) rs104895564 0.00044
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619 0.00039
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp) rs138943074 0.00038
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000505.4(F12):c.1681-1G>A rs199988476 0.00036
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro) rs146195955 0.00033
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020 0.00031
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) rs142371860 0.00031
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_000443.4(ABCB4):c.2784-12T>C rs201498350 0.00019
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833 0.00019
NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly) rs137973334 0.00019
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083 0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter) rs200800978 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207 0.00015
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
NM_001080442.3(SLC38A8):c.388+5G>A rs760391436 0.00014
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615 0.00012
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
NM_020549.5(CHAT):c.406G>A (p.Val136Met) rs201479289 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_078470.6(COX15):c.396-3C>G rs200910834 0.00011
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606 0.00010
NM_002016.2(FLG):c.3059C>G (p.Ser1020Ter) rs200360684 0.00010
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_001206744.2(TPO):c.1472G>A (p.Arg491His) rs201165648 0.00008
NM_001363711.2(DUOX2):c.3329G>A (p.Arg1110Gln) rs368488511 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_000478.6(ALPL):c.575T>C (p.Met192Thr) rs765011829 0.00007
NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp) rs757369063 0.00007
NM_002693.3(POLG):c.2636A>G (p.Gln879Arg) rs368587966 0.00007
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) rs141210410 0.00007
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) rs28937890 0.00007
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_001083116.3(PRF1):c.666C>A (p.His222Gln) rs751247865 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His) rs368435864 0.00006
NM_007059.4(KPTN):c.394+1G>A rs373139784 0.00006
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter) rs149830411 0.00006
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) rs201430951 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_206933.4(USH2A):c.12295-3T>A rs111033518 0.00006
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788 0.00005
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys) rs377216516 0.00005
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn) rs771877780 0.00005
NM_004092.4(ECHS1):c.389T>A (p.Val130Asp) rs753793522 0.00005
NM_005005.3(NDUFB9):c.1A>G (p.Met1Val) rs369824948 0.00005
NM_005548.3(KARS1):c.85G>C (p.Ala29Pro) rs369238198 0.00005
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu) rs747965749 0.00005
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile) rs148393161 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153 0.00004
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) rs374694591 0.00004
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter) rs1384922524 0.00004
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter) rs149808404 0.00004
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter) rs201045495 0.00004
NM_003801.4(GPAA1):c.149T>A (p.Met50Lys) rs200581623 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg) rs780085174 0.00004
NM_005327.7(HADH):c.908G>T (p.Gly303Val) rs575378007 0.00004
NM_020247.5(COQ8A):c.1228C>T (p.Arg410Ter) rs753254213 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter) rs75459701 0.00004
NM_145691.4(ATPAF2):c.133+1G>T rs147941728 0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) rs121908718 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu) rs863223434 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834 0.00003
NM_000518.5(HBB):c.-151C>T rs63751208 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile) rs397516686 0.00003
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter) rs74315370 0.00003
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser) rs386833848 0.00003
NM_006059.4(LAMC3):c.976+1G>C rs201519274 0.00003
NM_014049.5(ACAD9):c.1298G>A (p.Arg433Gln) rs781156571 0.00003
NM_015713.5(RRM2B):c.329G>A (p.Arg110His) rs267607025 0.00003
NM_017837.4(PIGV):c.146C>A (p.Ser49Ter) rs145160045 0.00003
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755 0.00003
NM_033100.4(CDHR1):c.1A>G (p.Met1Val) rs794726954 0.00003
NM_080916.3(DGUOK):c.444-11C>G rs536746349 0.00003
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp) rs114837786 0.00003
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) rs373150395 0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840 0.00002
NM_000400.4(ERCC2):c.1479+2dup rs776705174 0.00002
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) rs200495564 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_001232.4(CASQ2):c.234+2T>C rs757789935 0.00002
NM_001267550.2(TTN):c.107377+1G>A rs112188483 0.00002
NM_001330288.2(SMARCC2):c.3222del (p.Gly1075fs) rs752788954 0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285 0.00002
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582 0.00002
NM_005548.3(KARS1):c.1676C>T (p.Thr559Met) rs774447299 0.00002
NM_006618.5(KDM5B):c.1834C>T (p.Arg612Ter) rs777362026 0.00002
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625 0.00002
NM_020451.3(SELENON):c.883G>A (p.Glu295Lys) rs978886878 0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_080916.3(DGUOK):c.749T>C (p.Leu250Ser) rs749464475 0.00002
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.632-3C>G rs568027879 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) rs770900468 0.00001
NM_000089.4(COL1A2):c.2958del (p.Val987fs) rs1064793527 0.00001
NM_000092.5(COL4A4):c.1145G>C (p.Gly382Ala) rs751952236 0.00001
NM_000094.4(COL7A1):c.4484G>T (p.Gly1495Val) rs1381334911 0.00001
NM_000094.4(COL7A1):c.5173G>A (p.Gly1725Arg) rs772195825 0.00001
NM_000094.4(COL7A1):c.5291G>C (p.Gly1764Ala) rs1057520568 0.00001
NM_000094.4(COL7A1):c.7060G>C (p.Gly2354Arg) rs748466015 0.00001
NM_000100.4(CSTB):c.1_2insAT (p.Met1fs) rs1044894207 0.00001
NM_000138.5(FBN1):c.6163+2dup rs794728315 0.00001
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr) rs398123164 0.00001
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp) rs111033666 0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887 0.00001
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg) rs267607995 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632 0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.3688G>A (p.Glu1230Lys) rs199473598 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000335.5(SCN5A):c.4931C>T (p.Thr1644Met) rs199473288 0.00001
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420 0.00001
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646 0.00001
NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys) rs727504243 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.14130-2A>G rs1457662393 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.6584C>T (p.Pro2195Leu) rs772003357 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.8310+1G>T rs1970380121 0.00001
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) rs137852873 0.00001
NM_001037.5(SCN1B):c.73G>A (p.Asp25Asn) rs786205837 0.00001
NM_001048174.2(MUTYH):c.493-5A>G rs758377868 0.00001
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu) rs906284769 0.00001
NM_001098.3(ACO2):c.1132C>T (p.Arg378Ter) rs2066512609 0.00001
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys) rs267607002 0.00001
NM_001142800.2(EYS):c.5644+5G>A rs794727412 0.00001
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His) rs398123588 0.00001
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645 0.00001
NM_001195518.2(MICU1):c.1A>G (p.Met1Val) rs747832014 0.00001
NM_001195553.2(DCX):c.587G>A (p.Arg196His) rs56030372 0.00001
NM_001267550.2(TTN):c.105805del (p.Thr35269fs) rs752787097 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001267550.2(TTN):c.44816-1G>A rs749705939 0.00001
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350 0.00001
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter) rs768431507 0.00001
NM_001267550.2(TTN):c.55432+5G>C rs754717390 0.00001
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275 0.00001
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142 0.00001
NM_001354768.3(NRL):c.544C>T (p.Gln182Ter) rs901811301 0.00001
NM_001358921.2(COQ2):c.800C>T (p.Thr267Met) rs761785906 0.00001
NM_001371904.1(APOA5):c.888del (p.Ile296fs) rs1477198098 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_003280.3(TNNC1):c.91G>A (p.Ala31Thr) rs397514616 0.00001
NM_003718.5(CDK13):c.2995C>T (p.Arg999Ter) rs1175530571 0.00001
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg) rs1326514987 0.00001
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg) rs1131691709 0.00001
NM_004076.5(CRYBB3):c.466G>A (p.Gly156Arg) rs1203386884 0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850 0.00001
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) rs121913530 0.00001
NM_005984.5(SLC25A1):c.389G>A (p.Gly130Asp) rs368647424 0.00001
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) rs886042002 0.00001
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_006767.4(LZTR1):c.993+1G>A rs770368435 0.00001
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) rs80357064 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_015214.3(DDHD2):c.568C>T (p.Arg190Ter) rs377293194 0.00001
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337 0.00001
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038 0.00001
NM_016302.4(CRBN):c.1255C>T (p.Arg419Ter) rs121918368 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_018006.5(TRMU):c.2T>G (p.Met1Arg) rs118203992 0.00001
NM_018196.4(TMLHE):c.359-2A>G rs782792356 0.00001
NM_021074.5(NDUFV2):c.669_670insG (p.Ser224fs) rs772188600 0.00001
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys) rs387907039 0.00001
NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter) rs749850181 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_139276.3(STAT3):c.1919A>T (p.Tyr640Phe) rs769031989 0.00001
NM_145207.3(AFG2A):c.1877G>C (p.Trp626Ser) rs375343753 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_213599.3(ANO5):c.1391C>A (p.Ala464Asp) rs529961953 0.00001
GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del) rs769280599
NM_000026.4(ADSL):c.153+1G>T rs1555903969
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) rs137854574
NM_000038.6(APC):c.2395dup (p.Tyr799fs) rs879254110
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.423-1G>A rs397514031
NM_000038.6(APC):c.487C>T (p.Gln163Ter) rs863225362
NM_000038.6(APC):c.6510del (p.Glu2172fs) rs1554087474
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs) rs80359304
NM_000059.4(BRCA2):c.1964del (p.Pro655fs) rs1555282375
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter) rs878853559
NM_000059.4(BRCA2):c.2254_2257del (p.Asp752fs) rs80359326
NM_000059.4(BRCA2):c.3785C>A (p.Ser1262Ter) rs80358620
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5723_5724del (p.Leu1908fs) rs886040608
NM_000059.4(BRCA2):c.774_775del (p.Glu260fs) rs75096777
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser) rs56371528
NM_000059.4(BRCA2):c.8991T>G (p.Tyr2997Ter) rs397508028
NM_000062.3(SERPING1):c.871A>C (p.Asn291His) rs1057520366
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.1985G>A (p.Gly662Glu)
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val) rs200814061
NM_000094.4(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.4(COL7A1):c.6101G>C (p.Gly2034Ala) rs1057520530
NM_000094.4(COL7A1):c.6662G>A (p.Gly2221Glu)
NM_000094.4(COL7A1):c.6761G>A (p.Gly2254Glu) rs2107659875
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) rs515726173
NM_000138.5(FBN1):c.3379G>A (p.Gly1127Ser) rs137854468
NM_000138.5(FBN1):c.5513G>A (p.Gly1838Asp) rs78970689
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr) rs863224022
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp) rs368244038
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.675C>G (p.Ile225Met) rs772754004
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser) rs386833559
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1714C>T (p.Gln572Ter) rs1064795256
NM_000179.3(MSH6):c.1901_1902del (p.Thr633_Leu634insTer) rs267608082
NM_000179.3(MSH6):c.2910G>A (p.Trp970Ter) rs765411990
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.3(MSH6):c.3932_3935dup (p.Ile1313fs) rs267608127
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter) rs587779318
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg) rs398123244
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000218.3(KCNQ1):c.1033-2A>G rs794728523
NM_000218.3(KCNQ1):c.1355G>T (p.Arg452Leu) rs145229963
NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs) rs397508090
NM_000218.3(KCNQ1):c.1571T>G (p.Val524Gly) rs199472790
NM_000238.4(KCNH2):c.1675C>T (p.Leu559Phe) rs794728374
NM_000238.4(KCNH2):c.1711A>G (p.Ile571Val) rs199472928
NM_000238.4(KCNH2):c.1778T>C (p.Ile593Thr) rs28928904
NM_000238.4(KCNH2):c.2246G>T (p.Gly749Val) rs199472989
NM_000238.4(KCNH2):c.298C>G (p.Arg100Gly) rs121912515
NM_000238.4(KCNH2):c.299G>A (p.Arg100Gln) rs199472855
NM_000243.3(MEFV):c.1759+1G>A rs876660996
NM_000249.4(MLH1):c.1050del (p.Gly351fs) rs587778883
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.380+2T>C rs267607742
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2228C>A (p.Ser743Ter) rs63751155
NM_000251.3(MSH2):c.508C>T (p.Gln170Ter) rs63750843
NM_000256.3(MYBPC3):c.1624+5G>A rs730880691
NM_000256.3(MYBPC3):c.2414G>A (p.Gly805Asp) rs730880566
NM_000256.3(MYBPC3):c.3330+5G>A rs373746463
NM_000256.3(MYBPC3):c.3617G>A (p.Gly1206Asp) rs1057517769
NM_000256.3(MYBPC3):c.505+1G>A rs730880620
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000257.4(MYH7):c.1048T>C (p.Tyr350His) rs730880863
NM_000257.4(MYH7):c.1210G>A (p.Val404Met) rs730880867
NM_000257.4(MYH7):c.2792A>G (p.Glu931Gly) rs730880760
NM_000257.4(MYH7):c.2858A>T (p.Asp953Val) rs730880901
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000258.3(MYL3):c.457del (p.Leu153fs) rs1064793448
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) rs758687942
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000276.4(OCRL):c.1498C>G (p.Arg500Gly) rs398123287
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu) rs1554893792
NM_000314.8(PTEN):c.198G>T (p.Lys66Asn) rs2132232321
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr) rs1554897856
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.402_404del (p.Met134del) rs1554898152
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) rs137854609
NM_000335.5(SCN5A):c.3628ATC[1] (p.Ile1211del) rs794728920
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr) rs199473224
NM_000335.5(SCN5A):c.3997A>G (p.Ile1333Val) rs199473226
NM_000335.5(SCN5A):c.4296+6T>C rs794728934
NM_000335.5(SCN5A):c.5723A>G (p.Gln1908Arg) rs199473326
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000363.5(TNNI3):c.529AAG[1] (p.Lys178del) rs397516351
NM_000363.5(TNNI3):c.548A>C (p.Lys183Thr) rs730881078
NM_000382.3(ALDH3A2):c.1202G>A (p.Gly401Glu) rs1010078101
NM_000388.4(CASR):c.1913G>T (p.Arg638Leu) rs201852643
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000432.4(MYL2):c.3+1G>T rs730880948
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser) rs755218546
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu) rs397508480
NM_000516.7(GNAS):c.304G>A (p.Ala102Thr) rs2146178601
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000540.3(RYR1):c.10347+1G>A rs111436401
NM_000540.3(RYR1):c.1267_1276dup (p.Gly426fs) rs1967149532
NM_000540.3(RYR1):c.1440+2T>G rs1555767403
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14843A>G (p.Gln4948Arg) rs1974467952
NM_000540.3(RYR1):c.7522C>G (p.Arg2508Gly) rs118192178
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
NM_000540.3(RYR1):c.9001-2A>G rs774119942
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.6(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.4(VHL):c.614_615del (p.Arg205fs) rs730882030
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_000612.6(IGF2):c.100G>A (p.Gly34Ser) rs1858937359
NM_000702.4(ATP1A2):c.1127C>G (p.Thr376Arg) rs121918620
NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp) rs886039530
NM_000719.7(CACNA1C):c.3995G>A (p.Arg1332Gln) rs2153655235
NM_000719.7(CACNA1C):c.737G>A (p.Arg246Gln)
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000789.4(ACE):c.47_70del (p.Leu16_Pro23del) rs983649759
NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg) rs1057519201
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001005273.3(CHD3):c.2897G>A (p.Arg966Gln) rs1555611692
NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys) rs968974699
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001035.3(RYR2):c.11965A>C (p.Asn3989His) rs794728779
NM_001035.3(RYR2):c.184C>T (p.Leu62Phe) rs794728813
NM_001040142.2(SCN2A):c.2654C>T (p.Thr885Ile) rs1699477928
NM_001040142.2(SCN2A):c.2990A>G (p.Asp997Gly) rs1057523786
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001042681.2(RERE):c.3249dup (p.Ser1084fs) rs745806637
NM_001069.3(TUBB2A):c.1171C>T (p.Arg391Cys) rs1554122907
NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu) rs1554122947
NM_001069.3(TUBB2A):c.904G>A (p.Ala302Thr)
NM_001079668.3(NKX2-1):c.872C>T (p.Pro291Leu) rs1057519223
NM_001080508.3(TBX18):c.1285C>T (p.Arg429Ter) rs886041719
NM_001080517.3(SETD5):c.941A>G (p.Asn314Ser) rs2041315307
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001100913.3(PACS2):c.631G>A (p.Glu211Lys) rs1595718024
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) rs886041309
NM_001103.4(ACTN2):c.2578C>T (p.Gln860Ter) rs763078071
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) rs80338841
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001127222.2(CACNA1A):c.4250G>A (p.Arg1417Gln) rs1568471977
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg) rs1168625480
NM_001127644.2(GABRA1):c.334C>T (p.Arg112Trp) rs1754199170
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp) rs748232676
NM_001134363.3(RBM20):c.1913C>G (p.Pro638Arg) rs267607003
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser) rs1555488119
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001145809.2(MYH14):c.359C>T (p.Ser120Leu) rs119103281
NM_001148.6(ANK2):c.1937C>T (p.Ser646Phe) rs786205724
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
NM_001165963.4(SCN1A):c.1092C>A (p.Ser364Arg) rs766332635
NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=) rs796052994
NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr) rs886039464
NM_001166114.2(PNPLA6):c.3517C>T (p.Arg1173Trp) rs766389806
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
NM_001174147.2(LMX1B):c.781C>T (p.Arg261Cys) rs886039576
NM_001184880.2(PCDH19):c.370G>C (p.Asp124His) rs796052797
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001195553.2(DCX):c.557G>A (p.Arg186His) rs587783563
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln) rs1131691799
NM_001205293.3(CACNA1E):c.5267+5G>A rs2102796431
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs) rs752101551
NM_001267550.2(TTN):c.38660del (p.Lys12887fs) rs761617432
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.67058-1G>C rs756715989
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs) rs774604740
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001267550.2(TTN):c.96310+2T>G rs794729303
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) rs45586240
NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln) rs121964860
NM_001276345.2(TNNT2):c.852-2A>C rs111692981
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001320.7(CSNK2B):c.257G>A (p.Arg86His)
NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs) rs1602300837
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys) rs1555230905
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001348716.2(KDM6B):c.1085_1088del (p.Glu362fs) rs769566928
NM_001349338.3(FOXP1):c.1652+5G>A rs794727216
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys) rs1064795323
NM_001360.3(DHCR7):c.356A>T (p.His119Leu) rs28938174
NM_001365088.1(SLC12A6):c.2436+1del rs515726215
NM_001367624.2(ZNF469):c.10332del (p.Arg3445fs) rs764470052
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001370259.2(MEN1):c.1050-3C>G
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001371333.1(DIABLO):c.377C>T (p.Ser126Leu) rs387906893
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001372.4(DNAH9):c.308dup (p.Leu104fs) rs769795916
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_001378615.1(CC2D2A):c.4533G>C (p.Trp1511Cys) rs777158229
NM_001379403.1(WDR26):c.823-10A>G rs1674395504
NM_001393504.1(MAST3):c.1615G>A (p.Gly539Ser) rs1478088223
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val) rs797044730
NM_001615.4(ACTG2):c.584C>T (p.Thr195Ile) rs1057520694
NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln) rs1553396458
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys) rs199984052
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser) rs878853070
NM_001848.3(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001875.5(CPS1):c.2407C>A (p.Arg803Ser) rs201716417
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del) rs794728093
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002074.5(GNB1):c.154C>T (p.Arg52Trp) rs2100858748
NM_002074.5(GNB1):c.343G>A (p.Gly115Ser) rs1646670170
NM_002074.5(GNB1):c.346G>A (p.Gly116Ser) rs1231842600
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu) rs1576203003
NM_002156.5(HSPD1):c.1607C>T (p.Ala536Val) rs863224878
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs) rs768980918
NM_002576.5(PAK1):c.379G>A (p.Val127Met) rs2137081902
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.3(POLG):c.3294T>G (p.Asn1098Lys) rs374224714
NM_002693.3(POLG):c.3313G>C (p.Ala1105Pro) rs753410045
NM_002755.4(MAP2K1):c.355C>T (p.His119Tyr) rs730880503
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly) rs727503996
NM_002834.5(PTPN11):c.10C>G (p.Arg4Gly) rs886041517
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_002834.5(PTPN11):c.661A>G (p.Ile221Val) rs397516806
NM_002880.4(RAF1):c.775T>G (p.Ser259Ala) rs3730271
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met) rs1064794981
NM_003042.4(SLC6A1):c.332G>A (p.Gly111Glu) rs1574892457
NM_003070.5(SMARCA2):c.3439G>A (p.Asp1147Asn) rs886041299
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003108.4(SOX11):c.175T>C (p.Trp59Arg) rs2103276343
NM_003172.4(SURF1):c.324-11T>G rs375398247
NM_003179.3(SYP):c.397C>T (p.Arg133Ter) rs1557103139
NM_003366.4(UQCRC2):c.757_766+3del rs745553184
NM_003470.3(USP7):c.383+1G>C rs1567227059
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003660.4(PPFIA3):c.1243C>T (p.Arg415Trp)
NM_004046.6(ATP5F1A):c.545G>A (p.Arg182Gln) rs2144189607
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004360.5(CDH1):c.2398del (p.Arg800fs) rs587783048
NM_004415.4(DSP):c.1A>G (p.Met1Val) rs1131691557
NM_004523.4(KIF11):c.1288GAG[2] (p.Glu432del) rs1554861545
NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del) rs797044966
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_005027.4(PIK3R2):c.1694C>G (p.Pro565Arg) rs1131691683
NM_005120.3(MED12):c.2735C>T (p.Ser912Leu) rs2147797835
NM_005120.3(MED12):c.3844G>A (p.Val1282Met) rs398124197
NM_005157.6(ABL1):c.350C>T (p.Thr117Met) rs1830948350
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404
NM_005273.4(GNB2):c.229G>A (p.Gly77Arg) rs1804373189
NM_005359.6(SMAD4):c.728_735del (p.Gly243fs) rs1060500742
NM_005422.4(TECTA):c.2264dup (p.Asn755fs) rs1159210445
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs) rs1603216806
NM_005633.4(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys) rs2149946003
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del) rs779647632
NM_005901.6(SMAD2):c.358C>T (p.Arg120Ter)
NM_005901.6(SMAD2):c.544C>T (p.Arg182Ter) rs370352616
NM_006005.3(WFS1):c.2390A>T (p.Asp797Val)
NM_006009.4(TUBA1A):c.1225G>A (p.Val409Ile) rs1565626928
NM_006009.4(TUBA1A):c.362G>A (p.Arg121Gln) rs2121246284
NM_006009.4(TUBA1A):c.427G>A (p.Gly143Arg) rs1131691318
NM_006009.4(TUBA1A):c.449C>T (p.Thr150Ile) rs1565627339
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) rs1565627304
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser) rs1064795213
NM_006009.4(TUBA1A):c.640C>T (p.Arg214Cys) rs886044568
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_006009.4(TUBA1A):c.790C>G (p.Arg264Gly) rs137853043
NM_006086.4(TUBB3):c.1070C>T (p.Pro357Leu) rs2151093027
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) rs1555625363
NM_006231.4(POLE):c.2091dup (p.Phe699fs) rs752846614
NM_006245.4(PPP2R5D):c.748G>A (p.Glu250Lys) rs1762178779
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr) rs1762178916
NM_006306.4(SMC1A):c.793_795del (p.Glu265del) rs1602413408
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu) rs794727507
NM_006516.4(SLC2A1):c.1131CTT[1] (p.Phe379del)
NM_006516.4(SLC2A1):c.1232A>G (p.Asn411Ser) rs398123069
NM_006516.4(SLC2A1):c.937T>C (p.Ser313Pro) rs886041633
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_006565.4(CTCF):c.1130G>A (p.Arg377His) rs968244943
NM_006767.4(LZTR1):c.851G>A (p.Arg284His) rs768361273
NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met) rs1057522195
NM_006940.6(SOX5):c.1678A>G (p.Met560Val) rs1591908609
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) rs1565669640
NM_007255.3(B4GALT7):c.398A>G (p.Gln133Arg) rs1370937766
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.3668_3671dup (p.Cys1225fs) rs80357797
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.4372C>T (p.Gln1458Ter) rs80356932
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4609C>T (p.Gln1537Ter) rs80357229
NM_007294.4(BRCA1):c.4987-2A>G rs397509212
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer) rs80357896
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.4(BRCA1):c.5266C>T (p.Gln1756Ter) rs397509247
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs) rs80357989
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys) rs2045826576
NM_012062.5(DNM1L):c.106A>G (p.Ser36Gly) rs879255688
NM_012079.6(DGAT1):c.629_631del (p.Ser210del) rs782577883
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012247.5(SEPHS1):c.1111C>T (p.Arg371Trp)
NM_012330.4(KAT6B):c.1864C>T (p.Arg622Ter) rs1383727273
NM_013275.6(ANKRD11):c.7607G>A (p.Arg2536Gln) rs2033511172
NM_013275.6(ANKRD11):c.7753C>T (p.Arg2585Cys) rs1567537304
NM_014225.6(PPP2R1A):c.430C>T (p.Arg144Cys) rs2122329969
NM_014516.4(CNOT3):c.732del (p.Ser245fs) rs753475896
NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys) rs869312709
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_015001.3(SPEN):c.2417_2418dup (p.Arg807fs) rs764595221
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_015697.9(COQ2):c.48dup (p.Ala17fs) rs767298430
NM_016628.5(WAC):c.381+4_381+7del rs1564400647
NM_017668.3(NDE1):c.1A>G (p.Met1Val) rs794727491
NM_018006.5(TRMU):c.954dup (p.Ala319fs) rs863224242
NM_018122.5(DARS2):c.228-16C>A rs778731200
NM_018263.6(ASXL2):c.1879dup (p.Ser627fs) rs1574391468
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg) rs398122909
NM_020166.5(MCCC1):c.168C>G (p.Asn56Lys) rs1057520695
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs) rs764847439
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020975.6(RET):c.2752A>G (p.Met918Val) rs377767442
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_021008.4(DEAF1):c.658G>A (p.Gly220Ser) rs751569402
NM_021008.4(DEAF1):c.837C>G (p.Cys279Trp)
NM_021008.4(DEAF1):c.890T>C (p.Phe297Ser) rs1390761338
NM_021956.5(GRIK2):c.1969G>A (p.Ala657Thr) rs1790057505
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016
NM_025077.4(TOE1):c.940_941del (p.Gln314fs) rs780563835
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter) rs560987504
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_033380.3(COL4A5):c.4529-345A>G rs1569508899
NM_052867.4(NALCN):c.3959C>T (p.Thr1320Met)
NM_053025.4(MYLK):c.3393dup (p.Thr1132fs) rs2108576783
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter) rs587781490
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_130837.3(OPA1):c.1681+3A>G rs1553878573
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp) rs1184981709
NM_144573.4(NEXN):c.461_464del (p.Asn154fs) rs794729088
NM_144991.3(TSPEAR):c.1785AGA[1] (p.Glu596del)
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu) rs552219028
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs) rs886041327
NM_145698.5(ACBD5):c.1467G>A (p.Trp489Ter) rs1564574359
NM_147196.3(TMIE):c.211+1G>C
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_170707.4(LMNA):c.513+1G>A rs397517904
NM_170707.4(LMNA):c.694G>A (p.Gly232Arg) rs267607609
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys) rs397517912
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys) rs118192218
NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr) rs886041860
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) rs794727813
NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys) rs765676223
NM_177559.3(CSNK2A1):c.400C>T (p.Arg134Ter) rs2122537652
NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg) rs797046075
NM_178012.5(TUBB2B):c.533C>T (p.Thr178Met) rs1057520391
NM_178012.5(TUBB2B):c.743C>T (p.Ala248Val) rs777598117
NM_178012.5(TUBB2B):c.935C>T (p.Thr312Met)
NM_182641.4(BPTF):c.255dup (p.Ser86fs) rs1598050118
NM_182641.4(BPTF):c.2598dup (p.Glu867fs) rs753044214
NM_194277.3(FRMD7):c.685C>T (p.Arg229Cys) rs137852212
NM_198904.4(GABRG2):c.247C>T (p.Pro83Ser) rs587777365
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_203475.3(PORCN):c.1093C>T (p.Arg365Trp) rs398124616
NM_203475.3(PORCN):c.787G>A (p.Glu263Lys) rs1556974682
NM_206933.4(USH2A):c.8546G>T (p.Gly2849Val) rs1064794034
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
Single allele

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